From the Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea.
Address correspondence to Chan Yun Kim, MD, PhD, Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, 134 Shinchon-dong, Seodaemun-gu, Seoul, 120-752 Korea.
Although general features of trisomy 4p have been relatively well studied in the literature,1 ocular findings have rarely been described. Reported ocular abnormalities mainly include microphthalmos, anophthalmos, and uveal colobomata.2–4 We have experienced a multitude of ocular abnormalities associated with this chromosomal abnormality and present them in this report.
A 19-year-old woman presented to our clinic with bilateral white pupils that her parents had noticed for approximately 1 year. She was developmentally delayed, of short stature and low weight (126 cm in height and 23 kg in weight, both of which fell below the third percentile), and was diagnosed as having scoliosis (Fig. 1A). Her facial features were unusual—a triangular face with frontal bossing, mid-facial hypoplasia, micrognathia, and buckteeth. She also had a large angle esotropia, ptosis, telecanthus, and epicanthus inversus (Fig. 1B). Karyotyping was performed. Chromosomal preparations were made from peripheral blood leukocytes. All 25 cells showed 46,XX,4p+ (Fig. 1C). The cytogenic examination was recommended to her parents, brother, and sister, but they refused.
Figure 1. (A) Scoliosis Was Noted on Plain Chest X-Ray. (B) the Patient Showed Esotropia, Ptosis, Telecanthus, and Epicanthus Inversus. (C) Karyotype Revealed Autosomal Imbalance (46,XX,4p+).
Visual acuity was unable to be checked due to poor cooperation. She was not able to walk by herself. Under general anesthesia, a detailed ophthalmic examination was performed. Lagophthalmos and a subepithelial corneal haze in the right eye were noted. Bilateral white dense cataracts and posterior synechiae for 360° were found (Fig. 2A). Intraocular pressures of both eyes were measured at 15 mm Hg using the TonoPen (Reichert Ophthalmic Instruments, Depew, NY). A posterior staphyloma of the left eye was noted by B-scan ultra-sonography.
Figure 2. Intraoperative Photographs of (A) Subepithelial Corneal Opacity and White Dense Cataract and Posterior Synechiae for 360°, (B) Dense Posterior Subcapsular Opacity and Anterior Vitreal Condensation, and (C) Severely Tigroid Fundus Peripapillary Vascular Tortuosity and Vitreal Opacity. All Photographs Shown Are Vertically Inverted.
Extracapsular cataract extractions with phacoemulsification of both eyes were performed. Due to poor dilation, iris-retractor hooks were used, even after synechiolysis, with an ophthalmic viscoelastic device. During phacoemulsification, dense posterior subcapsular opacity and anterior vitreal condensation were noted (Fig. 2B). After the posterior chamber intraocular lens was inserted into the capsular bag, fundus examination was performed with indirect ophthalmoscopy. A thinning of the retinal pigment epithelium and choroids was noted, and vitreal opacities were observed in both eyes (Fig. 2C). Tortuous peripapillary vessels and an old branched retinal artery occlusion were also found in the left eye.
On postoperative day 1, the patient was seen to visually react to external influences. She walked by herself, made eye contact, and fixed steadily on moving objects. Although a quantitative visual acuity assessment could not be made due to poor cooperation, evidence pointed to the fact that she had improved vision.
Intraocular findings of our patient might be a result of the previous inflammatory process. Bilateral involvement with consequent formation of cataracts and posterior synechiae all point to this. Also, media opacities, including bilateral cataracts and vitreal opacities, are presumably postinflammatory. These intraocular inflammations could even be a part of the trisomy 4p syndrome, but no reports of uveitis have been made to date. Additionally, there is still some possibility that trisomy 4p and uveitis might only be coincidental. Whether the peripapillary retinal vascular tortuosity is a result of an abnormal embryogenetic process or vascular compromise has yet to be determined.
Trisomy 4p has been widely reviewed in the literature.1 However, ophthalmic manifestations have rarely been mentioned.2–4 Our patient presented with bilateral leukocoria and showed bilateral cataracts, posterior synechiae, and posterior segment changes. An earlier examination may have revealed the presence of intraocular inflammation. Thus, in our opinion, ophthalmic examination with the proper care is important for all patients with trisomy 4p.
- : Kleczkowska A, Fryns JP, van den Berghe H. Trisomy of the short arm of chromosome 4: the changing phenotype with age. Ann Genet. 1992;35:217–223.
- : Gonzalez CH, Sommer A, Meisner LF, Elejalde BR, Opitz JM. The trisomy 4p syndrome: case report and review. Am J Med Genet. 1977;1:137–156. doi:10.1002/ajmg.1320010202 [CrossRef]
- : Wiegand W. Eye changes in partial trisomy 4p [article in German]. Fortschr Ophthalmol. 1986;83:317–319.
- : Lurie IW, Samochvalov VA. Trisomy 4p and ocular defects. Br J Ophthalmol. 1994;78:415–417. doi:10.1136/bjo.78.5.415 [CrossRef]